European Reference Networks: Toward a Better Future for Rare Disease patients.

On the 10th edition of Rare Disease Day, February 28th 2017, Vytenis Andriukaitis, European Commissioner for Health & Food Safety, launched 24 European Reference Networks (ERNs). To avoid fragmentation, the European Commission followed the Opinion formulated by the European Expert Group on Rare Diseases (EUCERD), so that, for example, instead of 10 ERNs dealing with sub-sets of neurology, there is one overarching ERN-Neurology. The creation of the ERNs was a direct consequence of EUROPLAN, the joint action of European Member States to produce National Plans for Rare Diseases.
ERNs will stand for high quality, accessible, and cost-effective health care with a hope to directly improve the lives of the 30 million people living with a rare disease across Europe. Of course, the ERNs will need time to work out all the practical aspects of this innovative approach. However, the general enthusiasm of the participants indicates that Europe may have introduced a valuable tool to improve the quality of life of patients suffering from rare disorders. 
"ERNs will improve clinical excellence and patients' access to better treatment and care pathways in the country where they live, and therefore lead to better health outcomes for patients. The expertise will travel, rather than the patient."

A press release of EURORDIS, the umbrella organization for rare disease patients in Europe, announcing the creation of the ERNs, states:

Definition of ERNs:

Although there is no common definition for ERNs among European Union Member States for a center of reference and the definition of a rare disease varies between countries with official centers of reference, it is known that reference networks bring together and collect expertise, knowledge, and innovation skills that are essential for well-functioning health care systems of the future.
A cut-off prevalence qualifying a disease as "rare" that is well accepted in Europe, is 1 in 2,000. ERNs for rare diseases will serve as research and knowledge centers, updating and contributing to the latest scientific findings, treating patients from other Member States, and ensuring the availability of subsequent treatment facilities where necessary. ERN’s are virtual networks combining the expertise of some 1,000 health care providers across Europe to work on rare conditions. For these disorders, best practice in medicine requires the combination of diagnosis, treatment, and care. To become a member of a specific ERN, a specialized center needs to be recognized by its national authorities.
It is very clear that ERNs will be patient-centric and focus on health care delivery. Participation of patients’ organizations of the diseases, which are the focus of specific ERNs, is mandatory. The patients’ organizations are therefore represented in the central committee overseeing the activities of an ERN. The EURORDIS press release specifies:

"Patients are represented at the core of the governance and development of ERNs through the European Patient Advocacy Groups (ePAGs), created by EURORDIS. Democratically elected ePAG representatives will collect and relay patients’ views on how ERNs should be governed to the Board of their respective ERN."

One of the ePAGs' representatives is Cathalijne Van Doorne, Vice-Chair with special responsibility for research at the European Federation of Neurology Associations (EFNA -, and member of the board of Euro-Ataxia. Cathalijne is Advisor to BioPontis Alliance and member of its Therapeutics Working Group.
By creating ERNs, the European Commission expects to substantially improve the diagnosis and management of the patients and to stimulate basic and clinical research on the pathogenesis and treatment of rare diseases.

ERNs and Research Collaborations:

To do just that, the ERNs will take stock of what is going on in the field, organize collaborations, and establish research priorities. They will also collaborate with reference centers or networks in other parts of the world. Through the ERNs, healthcare professionals in all participating European countries will gain new knowledge, resulting in improved clinical excellence, develop best practice guidelines, and better diagnosis, health care, and treatment outcomes for patients. Healthcare professionals are also expected to coordinate research efforts in the field.
BioPontis Alliance is setting up collaborations with two ERNs in Europe: the ERN-Neurology and the ERN-Neuromuscular. The ERN-Neurology is coordinated by Dr. Holm Grässner of the University of Tübingen, Germany. This week, BioPontis Alliance participated in the inaugural ERN-Neurology meeting in Milan, Italy, and became a member of the working group on Registries and Research.

BioPontis Alliance also participated in the inaugural meeting of the ERN-Neuromuscular last week in Berlin, Germany, and further discussions are ongoing. The ERN-Neuromuscular is coordinated by Prof. Kate Bushby of the University of Newcastle, UK.
One other organization represented in the ERN-Neurology is the European Academy of Neurology (EAN). BioPontis Alliance is a member of the Rare Disease Task Force of the EAN. One of EAN’s representatives in the ERN is its Scientific Director, Prof. Antonio Federico of the University of Siena, Italy, who is a member of the BioPontis Alliance Scientific Advisory Committee.

About BioPontis Alliance for Rare Diseases:

BioPontis Alliance for Rare Diseases is a unique international non-profit organization, formed to unleash science with the promise to bring more treatments into clinical trials for rare disease patients. In so doing, we identified four critical success pillars necessary to achieve our mission:
  1. Scientific translation - Our mission is successfully met by the development of therapy candidates that meet regulatory review requirements to enter into human trials;
  2. Patient integration – To become a hub for rare disease patients’ organization empowerment by integrating their voices into our preclinical therapy development programs and by aiding them to focus their research programs most efficiently towards therapy discovery;
  3. Collaborative partnerships - To accelerate the path to new treatments by partnering more effectively with key expert groups. Alliance is in our name because we recognized a lack of legally structured relationships aligning the interests of academic institutions and their researchers, patients’ organizations, funding sources and biopharmaceutical companies.
  4. Funding continuum - Philanthropy is crucial to enable patients’ engagement and the earliest de-risking experiments on basic discovery science in collaboration with BioPontis Alliance’s academic partners.



Contributions to this article were made by:

Erik Tambuyzer, Ph. D., Co-Founder and Chair, and Jean-Jacques Cassiman, Prof. em, Board member, BioPontis Alliance for Rare Diseases.
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